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G. Hooghwinkel, P. Borri, G. Bruyn (1966)
Biochemical studies in Huntington's choreaNeurology, 16
G. Rouser, Gerald Feldman, C. Galli (1965)
Fatty acid compositions of human brain lecithin and sphingomyelin in normal individuals, senile cerebral cortical atrophy, alzheimer’s disease, metachromatic leucodystrophy, Tay-Sachs and Niemann-Pick diseasesJournal of the American Oil Chemists Society, 42
O. Lowry, N. Rosebrough, A. Farr, R. Randall (1951)
Protein measurement with the Folin phenol reagent.The Journal of biological chemistry, 193 1
U. Pfändler (1946)
La maladie de Niemann-Pick dans le cadre des lipoidosesSchweiz Med Wschr, 76
R. Brady, J. Kanfer, M. Mock, D. Fredrickson (1966)
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.Proceedings of the National Academy of Sciences of the United States of America, 55 2
E. Porges (1966)
Contribution to the Study of Spleen Sphingomyelin in a Case of Niemann-Pick DiseaseJ Neurochem, 13
J.W. Farquhar (1959)
The Analysis of Fatty Acid Mixtures by Gas-Liquid ChromatographyNutr Rev, 17
D.Y. Hsia , J. Naylor, J.A.: " and Bigler (1962)
Cerebral Sphingolipidoses
L. Svennerholm (1956)
THE QUANTITATIVE ESTIMATION OF CEREBROSIDES IN NERVOUS TISSUEJournal of Neurochemistry, 1
L. Van Bogaert , F. Seitelberger, G.W.F. and Edgar (1963)
Neuropathological and Neurochemical Studies on a Case of Niemann-Pick Disease in a Young InfantActa Neuropath, 3
E. Klenk (1934)
On the Nature of the Phosphatide in the Spleen in Niemann-Pick DiseaseZ Physiol Chem, 229
A. Aballi, Katsuji Katō (1938)
Gaucher's disease in early infancyThe Journal of Pediatrics, 13
G. Bartlett (1959)
Phosphorus assay in column chromatography.The Journal of biological chemistry, 234 3
R. Terry, W. Sperry, B. Brodoff (1954)
Adult lipidosis resembling Niemann-Pick's disease.The American journal of pathology, 30 2
A. Crocker, S. Farber (1958)
NIEMANN‐PICK DISEASE: A REVIEW OF EIGHTEEN PATIENTSMedicine, 37
(1957)
A simple method for the isolation and purification of total lipids from animal tissues
W. Spencer, R. Schaffrin (1964)
THE ISOLATION OF BEEF SPHINGOMYELINS.Canadian journal of biochemistry, 42
J. Farquhar, W. Insull, P. Rosen, W. Stoffel, E. Ahrens (1959)
The analysis of fatty acid mixtures by gas-liquid chromatography; construction and operation of an ionization chamber instrument.Nutrition reviews, 17 8, Suppl.
R.M. Norman , A.H. Tingey, M.C.: " and Fowler (1966)
Proceedings of the Fifth International Congress of Neuropathology
J. Kanfer, O. Young, D. Shapiro, R. Brady (1966)
The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin-cleaving enzyme from rat liver tissue.The Journal of biological chemistry, 241 5
G.J.M. Hooghwinkel , P.F. Borri, G.W. and Bruyn (1966)
Biochemical Studies in Huntington's Chorea: V. Erythrocyte and Plasma Glycolipids and Fatty Acid Composition of Erythrocyte GangliosidesNeurology, 16
S. Ställberg-Stenhagen (1965)
Fatty Acid Composition of Human Brain SphingomyelinsJ Lipid Res, 6
A. Crocker (1961)
THE CEREBRAL DEFECT IN TAY‐SACHS DISEASE AND NIEMANN‐PICK DISEASE *Journal of Neurochemistry, 7
G.B. Ansell (1964)
Phospholipids
E. Porges, L. Solják, E. Solčániová, J. Cap (1966)
BEITRAG ZUM STUDIUM DES MILZSPHINGOMYELIN BEI DER NIEMANN‐PICK'SCHEN ERKRANKUNG CONTRIBUTION TO THE STUDY OF SPLEEN SPHINGOMYELIN IN A CASE OF NIEMANN‐PICK'S DISEASEJournal of Neurochemistry, 13
B. Ivemark, L. Svennerholm, C. Thorén, R. Tunell (1963)
Niemann‐Pick Disease in InfancyActa Pædiatrica, 52
D. Hsia, J. Naylor, J. Bigler (1962)
The Genetic Mechanism of Gaucher's Disease1,2
E. Svennerholm, S. Ställberg-Stenhagen, L. Svennerholm (1966)
Fatty acid composition of sphingomyelins in blood, spleen, placenta, liver, lung and kidneyBiochimica et Biophysica Acta, 125
J. Lowden (1967)
The quantitative determination of cholesterol in brain lipid extracts using gas—liquid chromatographyJournal of Chromatography A, 27
D.S.: " Frederickson (1966)
The Metabolic Basis of Inherited Disease
B.I. Ivemark (1963)
Niemann-Pick Disease in InfancyActa Paediat, 52
D. Booth, H. Goodwin, J. Cumings (1966)
Abnormal gangliosides in Tay-Sachs disease, Niemann-Pick's disease, and gargoylism.Journal of lipid research, 7 3
J. Lowden, M. Moscarello, R. Morecki (1966)
The isolation and characterization of an acid-soluble protein from myelin.Canadian journal of biochemistry, 44 5
J. Kampine, Roscoe Bardy, J. Kanfer, M. Feld, D. Shapiro (1967)
Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous BloodScience, 155
G. Rouser , G. Feldman, C. and Galli (1965)
Fatty Acid Compositions of Brain Lecithin and Sphingomyelin in Normal Individuals, Senile Cortical Atrophy, Alzheimer's Disease, Metachromatic Leucodystrophy, Tay-Sachs Disease and Niemann-Pick DiseaseJ Amer Oil Chem Soc, 42
Abstract NIEMANN-PICK disease is a progressive, familial disorder of childhood and is characterized by hepatosplenomegaly and cerebral degeneration. Increased amounts of sphingolipids are found in lungs, liver, spleen, brain, and most other organs of the body. These organs are filled with large, pale, foamy cells which stain positively with lipid stains. About 150 cases have now been reported in clinical, pathological, and, rarely, in chemical studies. The largest group is a series of 18 cases described by Crocker and Farber.1 Crocker2 has divided this series into four distinct clinical types: the classic infantile; the infantile without neurological involvement; the more slowly progressive or juvenile type; and a less clearly defined group of adolescent, Roman Catholic, Nova Scotians. However, Terry et al3 have described a rapidly progressive adult form of Niemann-Pick disease, and Pfändler4 also lists a group of adults who probably have this illness. Thus, Crocker's References 1. Crocker, A.C., and Farber, S.: Niemann-Pick Disease: A Review of Eighteen Patients , Medicine 37:1-95, 1958.Crossref 2. Crocker, A.C.: The Cerebral Defect in Tay-Sachs Disease and Niemann-Pick Disease , J Neurochem 7:69-80, 1961.Crossref 3. Terry, R.D.; Sperry, W.M.; and Brodoff, B.: Adult Lipidosis Resembling Niemann-Pick's Disease , Amer J Path 30:263-285, 1954. 4. Pfändler, U.: La maladie de Niemann-Pick dans le cadre des lipoidoses , Schweiz Med Wschr 76:1128-1131, 1946. 5. Klenk, E.: On the Nature of the Phosphatide in the Spleen in Niemann-Pick Disease , Z Physiol Chem 229:151-156, 1934.Crossref 6. Van Bogaert, L.; Seitelberger, F.; and Edgar, G.W.F.: Neuropathological and Neurochemical Studies on a Case of Niemann-Pick Disease in a Young Infant , Acta Neuropath 3:57-73, 1963.Crossref 7. Frederickson, D.S.: " Sphingomyelin Lipidosis: Niemann-Pick Disease ," in Stanbury, J. B.; Wyngaarden, J. B.; Frederickson, D. S. (eds.): The Metabolic Basis of Inherited Disease , ed 2, New York: McGraw Hill, 1966. 8. Rouser, G.; Feldman, G.; and Galli, C.: Fatty Acid Compositions of Brain Lecithin and Sphingomyelin in Normal Individuals, Senile Cortical Atrophy, Alzheimer's Disease, Metachromatic Leucodystrophy, Tay-Sachs Disease and Niemann-Pick Disease , J Amer Oil Chem Soc 42:411-412, 1965.Crossref 9. Ivemark, B.I., et al: Niemann-Pick Disease in Infancy , Acta Paediat 52:391-404, 1963.Crossref 10. Norman, R.M.; Tingey, A.H.; and Fowler, M.C.: " The Subacute Form of Niemann-Pick's Disease ," in Luthey, F., and Bischoft, A. (eds.): Proceedings of the Fifth International Congress of Neuropathology , Amsterdam: Excerpta Medica, 1966, pp 143-148. 11. Kanfer, J.N., et al: The Metabolism of Sphingomyelin: I. Purification and Properties of a Sphingomyeling Cleaving Enzyme From Rat Liver Tissue , J Biol Chem 241:1081-1084, 1966. 12. Brady, R.O., et al: The Metabolism of Sphingomyelin: II. Evidence of an Enzymatic Deficiency in Niemann-Pick Disease , Proc Nat Acad Sci 55:366-369, 1966.Crossref 13. Lowden, J.A.; Moscarello, M.A.; and Morecki, R.: The Isolation and Characterization of an Acid-Soluble Protein From Myelin , Canad J Biochem 44:567-577, 1966.Crossref 14. Folch, J.; Lees, M.B.; and Sloane-Stanley, G.H.: A Simple Method for the Isolation and Purification of Total Lipids From Animal Tissues , J Biol Chem 266:497-509, 1957. 15. Bartlett, G.R.: Phosphorus Assay in Column Chromatography , J Biol Chem 234:466-468, 1959. 16. Svennerholm, L.: Quantitative Estimation of Cerebrosides in Nervous Tissue , J Neurochem 1:42-53, 1956.Crossref 17. Lowden, J.A.: The Quantitative Determination of Cholesterol in Brain Lipid Extracts Using Gas-Liquid Chromatography , J Chromatogr 27:246-249, 1967.Crossref 18. Lowry, O.H., et al: Protein Measurement With the Folin Phenol Reagent , J Biol Chem 193:265-275, 1951. 19. Ställberg-Stenhagen, S., and Svennerholm, L.: Fatty Acid Composition of Human Brain Sphingomyelins , J Lipid Res 6:146-155, 1965. 20. Svennerholm, E.; Ställberg-Stenhagen, S.; and Svennerholm, L.: Fatty Acid Composition of Sphingomyelins in Blood, Spleen, Placenta, Liver, Lung and Kidney , Biochim Biophys Acta 125:60-69, 1966.Crossref 21. Spencer, W.A., and Schaffrin, R.: The Isolation of Beef Sphingomyelins , Canad J Biochem 42:1659-1675, 1964.Crossref 22. Booth, D.A.; Goodwin, H.; and Cumings, J.N.: Abnormal Gangliosides in Tay-Sachs Disease, Niemann-Pick Disease and Gargoylism , J Lipid Res 7:337-340, 1966. 23. Farquhar, J.W., et al: The Analysis of Fatty Acid Mixtures by Gas-Liquid Chromatography , Nutr Rev 17( (suppl) ):1-30, 1959. 24. Aballi, A.J., and Kato, K.: Gaucher's Disease in Early Infancy , J Pediat 13:364-380, 1938.Crossref 25. Hsia, D.Y.; Naylor, J.; and Bigler, J.A.: " The Genetic Mechanism of Gaucher's Disease ," in Aronson, S.M., Volk, B.W. (eds.): Cerebral Sphingolipidoses , New York: Academic Press, 1962. 26. Kampine, J.P., et al: Diagnosis of Gaucher's Disease and Niemann-Pick Disease With Small Samples of Venous Blood , Science 155:86-88, 1967.Crossref 27. Ansell, G.B., and Hawthorne, J.N.: Phospholipids , Amsterdam: Elsevier Publishing Co., 1964. 28. Hooghwinkel, G.J.M.; Borri, P.F.; and Bruyn, G.W.: Biochemical Studies in Huntington's Chorea: V. Erythrocyte and Plasma Glycolipids and Fatty Acid Composition of Erythrocyte Gangliosides , Neurology 16:934-936, 1966.Crossref 29. Porges, E., et al: Contribution to the Study of Spleen Sphingomyelin in a Case of Niemann-Pick Disease , J Neurochem 13:879-883, 1966.Crossref
Archives of Neurology – American Medical Association
Published: Sep 1, 1967
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